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Confirming an expanded spectrum of SCN2A mutations: a case series
Author(s) -
Matalon Dena,
Goldberg Ethan,
Medne Livija,
Marsh Eric D.
Publication year - 2014
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2014.0641
Subject(s) - dravet syndrome , epilepsy , channelopathy , mutation , sodium channel , scn3a , medicine , phenotype , epilepsy syndromes , genetics , g alpha subunit , gene , biology , protein subunit , sodium , chemistry , psychiatry , organic chemistry
Mutations in sodium channel genes are highly associated with epilepsy. Mutation of SCN1A , the gene encoding the voltage gated sodium channel (VGSC) alpha subunit type 1 (Nav1.1), causes Dravet syndrome spectrum disorders. Mutations in SCN2A have been identified in patients with benign familial neonatal‐infantile epilepsy (BFNIE), generalised epilepsy with febrile seizures plus (GEFS+), and a small number of reported cases of other infantile‐onset severe intractable epilepsy. Here, we report three patients with infantile‐onset severe intractable epilepsy found to have de novo mutations in SCN2A . While a causal role for these mutations cannot be directly established, these findings contribute to growing evidence that mutation of SCN2A is associated with a range of epilepsy phenotypes including severe infantile‐onset epilepsy.